Canonical Allele Identifier: CA16043670
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 374262
ClinVar RCV Id: RCV000415258 RCV002348135
dbSNP Id: rs1057518653
MyVariant Identifiers: chr9:g.137704468del (hg19) chr9:g.134812622del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134812622del , CM000671.2:g.134812622del GRCh38
NC_000009.11:g.137704468del , CM000671.1:g.137704468del GRCh37
NC_000009.10:g.136844289del NCBI36
NG_008030.1:g.175817del

Transcript Alleles

HGVS Amino-acid change
ENST00000371820.4:c.3762del ENSP00000360885.4:p.Gly1255AlafsTer21
ENST00000371817.8:c.3762del MANE Select ENSP00000360882.3:p.Gly1255AlafsTer21
ENST00000371817.7:c.3762del ENSP00000360882.3:p.Gly1255AlafsTer21
ENST00000618395.4:c.3762del ENSP00000481360.1:p.Gly1255AlafsTer21
NM_000093.4:c.3762del NP_000084.3:p.Gly1255AlafsTer21
NM_001278074.1:c.3762del NP_001265003.1:p.Gly1255AlafsTer21
XR_929712.1:n.4164del
XR_929713.1:n.4164del
XM_017014266.2:c.3762del XP_016869755.1:p.Gly1255AlafsTer21
XR_001746183.1:n.4160del
NM_000093.5:c.3762del MANE Select NP_000084.3:p.Gly1255AlafsTer21
Search 100 bp 5'
Search 100 bp 3'